Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A3_chr2_227159624_227319792	227282273	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0001	a0018c0028t0001g0013 a0018c0028t0001g0013	1	344	0.0029	28	c.248 others(43): Show c.2489-91_2489-90insTATATATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAAAGAAA others(21): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	284	0.0035	28	c.350 others(45): Show c.3505+299_3505+300insTTCTTTCTTTCTTTCTTTCTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAAAGAGA others(21): Show GAAAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	284	0.0035	28	c.350 others(45): Show c.3505+299_3505+300insTTCTTTCTCTCTCTCTCTCTCTCTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0175 a0007c0006t0004g0175	1	284	0.0035	28	c.145 others(45): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134828525	T T	TACCACAC others(21): Show TACCACACACCACACACACAATACACACC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0025 a0001c0005 a0001c0025	a0001c0005t0022 a0001c0025t0015 a0001c0005t0022 a0001c0025t0015	a0001c0005t0022g0085 a0001c0025t0015g0007 a0001c0005t0022g0085 a0001c0025t0015g0007	2	272	0.0074	28	c.506 others(47): Show c.5068-1449_5068-1448insCACACACCACACACACAATACACACC AC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02109.hp2 others(6): Show HG00099.hp1 HG00099.hp2 HG02109.hp2 HG02135.hp1 HG02622.hp1 HG02809.hp1 NA18951.hp1 NA19006.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0005 a0001c0001t0001 a0001c0001t0003 a0001c0007t0005	a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0003g0183 a0001c0001t0003g0231 a0001c0007t0005g0008	9	248	0.0363	28	c.457 others(45): Show c.457-2196_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0012 a0012	a0012c0077 a0012c0077	a0012c0077t0001 a0012c0077t0001	a0012c0077t0001g0113 a0012c0077t0001g0113	1	412	0.0024	28	c.214 others(45): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(21): Show TCCCGCCCCGCCCCTCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0005 a0001c0012t0005 a0001c0010t0005 a0001c0012t0005	a0001c0010t0005g0072 a0001c0012t0005g0073 a0001c0010t0005g0072 a0001c0012t0005g0073	2	128	0.0156	28	c.-17 others(37): Show c.-171_-170insCCCGCCCCGCCCCTCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46120125	C C	CCCCACTG others(21): Show CCCCACTGAGGCACCACTCACACCCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0242 a0003c0018t0003g0243 a0003c0018t0003g0242 a0003c0018t0003g0243	2	372	0.0054	28	c.133 others(45): Show c.1332+289_1332+290insACTCACACCCCCGGCCCACTGAGGCACC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120125	C C	CCCCACTG others(21): Show CCCCACTGAGGCACCACTCACACCCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0240 a0003c0032t0001g0241 a0003c0032t0001g0240 a0003c0032t0001g0241	2	364	0.0055	28	c.133 others(45): Show c.1332+289_1332+290insACTCACACCCCCGGCCCACTGAGGCACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(21): Show CCCCTCCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02080.hp1 others(13): Show HG01884.hp2 HG02015.hp2 HG02080.hp1 HG02630.hp1 HG02717.hp1 HG02922.hp2 HG03139.hp2 HG03486.hp1 HG06807.hp1 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18985.hp2 NA18989.hp2 NA19043.hp1 NA19240.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0001c0015 a0001c0023 others(2): Show a0001c0002 a0001c0015 a0001c0023 a0005c0017 a0007c0030	a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 others(4): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 a0001c0015t0002 a0001c0023t0001 a0005c0017t0002 a0007c0030t0002	a0001c0002t0002g0001 a0001c0002t0002g0275 a0001c0002t0002g0277 others(13): Show a0001c0002t0002g0001 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0287 a0001c0002t0002g0293 a0001c0002t0002g0317 a0001c0002t0002g0324 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0015t0002g0327 a0001c0023t0001g0250 a0001c0023t0001g0251 a0005c0017t0002g0258 a0007c0030t0002g0092 a0007c0030t0002g0093	16	364	0.0440	28	c.33 others(39): Show c.3334_*3335insCCCTCCCCAGCCTCCCCTCCCCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130531056	A A	AGTCTCTC others(21): Show AGTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0001 a0021c0030t0001	a0021c0030t0001g0156 a0021c0030t0001g0156	1	264	0.0038	28	c.-32 others(47): Show c.-32+13659_-32+13660insGTCTCTCTCTCTCTCTCTCTCTCTCT CT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0219 a0001c0001t0025g0219	1	262	0.0038	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATAGAGAGAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	262	0.0038	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATATATAGAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	262	0.0038	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATATATATAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	262	0.0038	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATATATATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATTA others(21): Show ATATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	262	0.0038	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(21): Show ATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 NA18953.hp1 HG01175.hp1 HG02145.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0161 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0161	3	262	0.0115	28	c.-3- others(45): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(21): Show ATATTATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	262	0.0038	28	c.-3- others(45): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATATTAT others(21): Show TATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	262	0.0038	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99803889	T T	TTTATTAT others(21): Show TTTATTATTTATTTATTTATTTTTGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0026 a0001c0001t0023 a0001c0001t0026	a0001c0001t0023g0037 a0001c0001t0026g0156 a0001c0001t0023g0037 a0001c0001t0026g0156	2	262	0.0076	28	c.77 others(39): Show c.7753_*7754insTTATTATTTATTTATTTATTTTTGAGAC	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4673		chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp2 HG02258.hp2 others(2): Show HG00438.hp1 HG01952.hp2 HG02258.hp2 HG03098.hp1 NA19082.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0004 a0003c0006 others(1): Show a0002c0002 a0002c0004 a0003c0006 a0004c0007	a0002c0002t0001 a0002c0004t0001 a0003c0006t0003 others(1): Show a0002c0002t0001 a0002c0004t0001 a0003c0006t0003 a0004c0007t0001	a0002c0002t0001g0064 a0002c0004t0001g0059 a0003c0006t0003g0080 others(2): Show a0002c0002t0001g0064 a0002c0004t0001g0059 a0003c0006t0003g0080 a0004c0007t0001g0014 a0004c0007t0001g0023	5	362	0.0138	28	c.250 others(47): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0343 a0002c0018t0006g0343	1	362	0.0028	28	c.975 others(45): Show c.975+1163_975+1164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(21): Show CATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	438	0.0023	28	c.-10 others(39): Show c.-1099_-1098insATATATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18971.hp1 HG01433.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0115 a0002c0002t0001g0002 a0002c0002t0001g0115	2	438	0.0046	28	c.-11 others(39): Show c.-1118_-1117insAAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	388	0.0026	28	c.292 others(43): Show c.292+378_292+379insGAGAGAGAAAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00642.hp1 others(51): Show HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02300.hp1 HG02683.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03704.hp2 HG06807.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19057.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0013	a0001c0003 a0001c0004 a0001c0005 others(7): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0023 a0002c0001 a0002c0007 a0003c0002 a0006c0009 a0013c0026	a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 others(41): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0025 a0001c0003t0050 a0001c0003t0060 a0001c0003t0080 a0001c0003t0087 a0001c0003t0151 a0001c0004t0024 a0001c0005t0081 a0001c0005t0221 a0001c0005t0250 a0001c0008t0017 a0001c0008t0146 a0001c0023t0172 a0002c0001t0015 a0002c0001t0123 a0002c0001t0125 a0002c0001t0182 a0002c0001t0184 a0002c0001t0232 a0002c0007t0132 a0003c0002t0007 a0003c0002t0011 a0003c0002t0014 a0003c0002t0022 a0003c0002t0024 a0003c0002t0030 a0003c0002t0032 a0003c0002t0054 a0003c0002t0066 a0003c0002t0083 a0003c0002t0118 a0003c0002t0122 a0003c0002t0126 a0003c0002t0131 a0003c0002t0140 a0003c0002t0200 a0003c0002t0252 a0006c0009t0094 a0006c0009t0100 a0013c0026t0006	a0001c0003t0002g0180 a0001c0003t0002g0198 a0001c0003t0002g0199 others(51): Show a0001c0003t0002g0180 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0254 a0001c0003t0004g0266 a0001c0003t0006g0166 a0001c0003t0006g0234 a0001c0003t0007g0222 a0001c0003t0025g0203 a0001c0003t0050g0004 a0001c0003t0060g0162 a0001c0003t0080g0060 a0001c0003t0087g0053 a0001c0003t0151g0289 a0001c0004t0024g0017 a0001c0005t0081g0147 a0001c0005t0221g0028 a0001c0005t0250g0354 a0001c0008t0017g0262 a0001c0008t0017g0350 a0001c0008t0017g0351 a0001c0008t0146g0317 a0001c0023t0172g0107 a0002c0001t0015g0175 a0002c0001t0015g0176 a0002c0001t0015g0242 a0002c0001t0123g0296 a0002c0001t0125g0299 a0002c0001t0182g0318 a0002c0001t0184g0276 a0002c0001t0232g0321 a0002c0007t0132g0041 a0003c0002t0007g0182 a0003c0002t0011g0285 a0003c0002t0011g0291 a0003c0002t0014g0205 a0003c0002t0022g0077 a0003c0002t0022g0210 a0003c0002t0024g0214 a0003c0002t0030g0061 a0003c0002t0032g0300 a0003c0002t0054g0239 a0003c0002t0066g0235 a0003c0002t0083g0202 a0003c0002t0118g0103 a0003c0002t0122g0252 a0003c0002t0126g0217 a0003c0002t0131g0101 a0003c0002t0140g0057 a0003c0002t0200g0332 a0003c0002t0252g0360 a0006c0009t0094g0139 a0006c0009t0100g0133 a0013c0026t0006g0221	54	366	0.1475	28	c.78 others(39): Show c.7837_*7838insATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	502333	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0230 a0002c0007t0230	a0002c0007t0230g0270 a0002c0007t0230g0270	1	366	0.0027	28	c.-18 others(39): Show c.-1820_-1819insGAAAGAAAGAAAAAAAAGAAAGAAAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1633		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0204	1	340	0.0029	28	c.374 others(43): Show c.374+605_374+606insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	350	0.0029	28	c.510 others(45): Show c.510+6078_510+6079insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158123	T T	TCCCTCCC others(21): Show TCCCTCCCTCCCTTCCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	350	0.0029	28	c.510 others(47): Show c.510+23958_510+23985dupTCCCCTCCCTCCCTTCCCCTCCCTCC CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG01928.hp1 others(11): Show HG01167.hp2 HG01496.hp1 HG01928.hp1 HG02523.hp2 NA18612.hp1 NA18946.hp2 NA18966.hp2 NA18972.hp1 NA18981.hp2 NA18988.hp1 NA18991.hp2 NA19055.hp2 NA19068.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0201 a0001c0001t0001g0202 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0346	14	350	0.0400	28	c.510 others(47): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01069.hp1 others(32): Show HG00438.hp2 HG00673.hp2 HG01069.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02647.hp1 HG02683.hp2 HG02922.hp1 HG04115.hp1 NA18612.hp2 NA18949.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0004c0006t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(32): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0173 a0001c0002t0001g0186 a0001c0002t0001g0187 a0003c0007t0001g0198 a0004c0006t0001g0203	35	350	0.1000	28	c.510 others(47): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT AT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	350	0.0029	28	c.31 others(39): Show c.3119_*3120insAAAAAAAAAAAAAAAAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01943.hp2 HG02056.hp1 others(17): Show HG00408.hp2 HG01943.hp2 HG02056.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG03540.hp2 NA18612.hp1 NA18946.hp2 NA18949.hp2 NA18962.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19065.hp1 NA19082.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 others(17): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286	20	286	0.0699	28	c.462 others(47): Show c.462+18064_462+18065insCTCCCTCCCTCCCTCCCTCCCTCCCT CC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp2 HG02922.hp2 others(1): Show HG01891.hp1 HG02056.hp2 HG02922.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0102 a0001c0001t0001g0195	4	286	0.0140	28	c.462 others(47): Show c.462+62889_462+62916dupATATATATATATATATATATATATAT AT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp1 HG02109.hp2 others(7): Show HG00673.hp2 HG01261.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 NA18960.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0160 a0001c0001t0001g0233 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0258	10	286	0.0350	28	c.463 others(47): Show c.463-40010_463-40009insATATATATATATATATATATATATAT AT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01167.hp1 others(9): Show HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp1 NA18951.hp1 NA18995.hp2 NA19065.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0169 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0043 a0001c0001t0005g0145 a0001c0001t0005g0148 a0001c0001t0014g0185	12	448	0.0268	28	c.44 others(39): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMTD1_chr10_75228641_75240957	75232748	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	28	c.13 others(39): Show c.1324_*1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		892		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02738.hp1 HG02922.hp2 others(8): Show HG02451.hp1 HG02738.hp1 HG02922.hp2 HG03471.hp1 NA18939.hp2 NA18946.hp1 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19030.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0001c0001t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0002t0002g0012 a0002c0003t0001g0262	11	300	0.0367	28	c.213 others(47): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT AT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20805.hp1 HG00642.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0240 a0001c0001t0001g0201 a0001c0001t0001g0240	2	300	0.0067	28	c.213 others(47): Show c.2134-8555_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028713	A A	ATATATAT others(21): Show ATATATATATATATATATATATATAGTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	300	0.0033	28	c.161 others(47): Show c.1613-1026_1613-1025insAAACTATATATATATATATATATATA TA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COPE_chr19_18894514_18924387	18902756	G G	GAAAGGAA others(21): Show GAAAGGAAGGAAAGGAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01192.hp1 others(4): Show HG00099.hp2 HG00323.hp2 HG01192.hp1 HG01928.hp2 HG02293.hp2 HG02683.hp2 HG03017.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0014 a0001c0002 a0007c0014	a0001c0002t0001 a0007c0014t0001 a0001c0002t0001 a0007c0014t0001	a0001c0002t0001g0044 a0001c0002t0001g0106 a0001c0002t0001g0107 others(4): Show a0001c0002t0001g0044 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0214 a0007c0014t0001g0103	7	330	0.0212	28	c.735 others(43): Show c.735+511_735+512insTCCTTCCTTTCCTTCCTTTCCTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129247224	G G	GTATATGT others(21): Show GTATATGTATATATATGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0014 a0002c0005t0002g0014	2	326	0.0061	28	c.-24 others(39): Show c.-2486_-2485insTATATGTATATATATGTGTGTGTATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2381		chr3	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	368	0.0027	28	c.-15 others(39): Show c.-1542_-1541insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02717.hp2 others(2): Show HG01243.hp1 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0051 a0002c0002t0002g0012 a0002c0002t0002g0051	5	396	0.0126	28	c.30 others(37): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19088.hp1 HG00423.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0060 a0002c0003t0002g0049 a0002c0003t0002g0060	2	372	0.0054	28	c.576 others(43): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8A_chr1_226935294_226992544	226978671	T T	TCCTTACA others(21): Show TCCTTACACACCCTCCACACACCTGCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG02027.hp1 others(27): Show HG00609.hp2 HG01106.hp1 HG02027.hp1 HG02071.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18948.hp1 NA18970.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0020 a0002c0004 others(5): Show a0001c0001 a0001c0020 a0002c0004 a0002c0007 a0002c0012 a0002c0013 a0003c0005 a0008c0014	a0001c0001t0001 a0001c0020t0003 a0002c0004t0003 others(5): Show a0001c0001t0001 a0001c0020t0003 a0002c0004t0003 a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0003c0005t0005 a0008c0014t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(25): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0170 a0001c0020t0003g0357 a0002c0004t0003g0015 a0002c0004t0003g0135 a0002c0004t0003g0165 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0168 a0002c0004t0003g0169 a0002c0004t0003g0191 a0002c0004t0003g0192 a0002c0004t0003g0193 a0002c0007t0003g0026 a0002c0007t0003g0353 a0002c0007t0003g0355 a0002c0012t0003g0190 a0002c0013t0003g0136 a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 a0003c0005t0005g0375 a0003c0005t0005g0376 a0003c0005t0005g0377 a0008c0014t0001g0367	30	412	0.0728	28	c.730 others(45): Show c.730+1152_730+1179dupTACACACCCTCCACACACCTGCACACCT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697849	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	410	0.0024	28	c.114 others(47): Show c.1144-1796_1144-1795insCTCTCTCTCTCTCTCTCTCTCTCTCT CT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(21): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 NA18953.hp2 others(1): Show HG00738.hp2 HG01192.hp1 NA18953.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0001t0001	a0001c0002t0001g0043 a0001c0002t0001g0320 a0001c0004t0001g0250 others(1): Show a0001c0002t0001g0043 a0001c0002t0001g0320 a0001c0004t0001g0250 a0002c0001t0001g0131	4	410	0.0098	28	c.114 others(47): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT AT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar

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